OMIA:001485-9615 : Dwarfism, PRKG2-related in Canis lupus familiaris (dog)
In other species: taurine cattle
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s) (MIM number): 601591 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Cross-species summary: 'Dwarfism, Angus' was renamed to 'Dwarfism, PRKG2-related' [29/10/2021]
Inheritance: Rudd Garces et al. (2021) reported evidence consistent with autosomal recessive inheritance.
Mapping: Rudd Garces et al. (2021): "... combined linkage and homozygosity mapping assigned the most likely position of a potential genetic defect to 34 genome segments, totaling 125 Mb."
Molecular basis: Rudd Garces et al. (2021): "The genome of an affected dog was sequenced and compared to 795 control genomes. The prioritization of private variants revealed a clear top candidate variant for the observed dwarfism. This variant, PRKG2:XM_022413533.1:c.1634+1G>T, affects the splice donor site and is therefore predicted to disrupt the function of the PKRG2 gene .... "
Clinical features: Rudd Garces et al. (2021) "investigated a family of nine Dogo Argentino dogs, in which two dogs were affected by disproportionate dwarfism. Radiographs of an affected dog revealed a decreased level of endochondral ossification in its growth plates, and a premature closure of the distal ulnar physes."
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PRKG2||protein kinase, cGMP-dependent, type II||Canis lupus familiaris||32||NC_006614.2 (8320656..8230637)||PRKG2||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1373||Dogo Argentino||Dwarfism, disproportionate||PRKG2||splicing||Naturally occurring variant||CanFam3.1||32||g.5299068C>A||c.1634+1G>T||cDNA position based on XM_022413533.1||2021||34680883|
Cite this entry
|2021||Rudd Garces, G., Turba, M.E., Muracchini, M., Diana, A., Jagannathan, V., Gentilini, F., Leeb, T. :|
|<i>PRKG2</i> Splice Site Variant in Dogo Argentino Dogs with Disproportionate Dwarfism. Genes (Basel) 12:1489, 2021. Pubmed reference: 34680883 . DOI: 10.3390/genes12101489.|
- Created by Imke Tammen2 on 29 Oct 2021